Keywords early infantile epileptic ence...

early infantile epileptic encephalopathy
Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il'ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky
BACKGROUND: Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritance: females with heterozygous mutations are affected, while hemizygous males are not. CASE PRESENTATION: We describe the clinical and molecular characteristics of 2 Russian patients with EIEE9 (females, ages 3 years and 7 years). In these patients seizures developed at the age of 3 years...
October 21, 2020: BMC Medical Genetics
Ji-Hoon Na, Saeam Shin, Donghwa Yang, Borahm Kim, Heung Dong Kim, Sehee Kim, Joon-Soo Lee, Jong-Rak Choi, Seung-Tae Lee, Hoon-Chul Kang
No abstract text is available yet for this article.
September 29, 2020: Brain & Development
Jacob M Hull, Heather A O'Malley, Chunling Chen, Yukun Yuan, Nicholas Denomme, Alexandra A Bouza, Charles Anumonwo, Luis F Lopez-Santiago, Lori L Isom
OBJECTIVE: Human variants in voltage-gated sodium channel (VGSC) α and β subunit genes are linked to developmental and epileptic encephalopathies (DEEs). Inherited, biallelic, loss-of-function variants in SCN1B, encoding the β1/β1B subunits, are linked to early infantile DEE (EIEE52). De novo, monoallelic variants in SCN1A (Nav1.1), SCN2A (Nav1.2), SCN3A (Nav1.3), and SCN8A (Nav1.6) are also linked to DEEs. While these VGSC-linked DEEs have similar presentations, they have diverse mechanisms of altered neuronal excitability...
September 26, 2020: Annals of Clinical and Translational Neurology
Andrew M Tidball, Luis F Lopez-Santiago, Yukun Yuan, Trevor W Glenn, Joshua L Margolis, J Clayton Walker, Emma G Kilbane, Christopher A Miller, E Martina Bebin, M Scott Perry, Lori L Isom, Jack M Parent
Missense variants in the SCN8A voltage-gated sodium channel gene are linked to early-infantile epileptic encephalopathy type 13, also known as SCN8A-related epilepsy. These patients exhibit a wide spectrum of intractable seizure types, severe developmental delay, movement disorders, and elevated risk of sudden unexpected death in epilepsy. The mechanisms by which SCN8A variants lead to epilepsy are poorly understood, although heterologous expression systems and mouse models have demonstrated altered sodium current properties...
September 24, 2020: Brain
Meryem Alagoz, Nasim Kherad, Sureyya Bozkurt, Adnan Yuksel
PURPOSE: Early infantile epileptic encephalopathy (EIEE) 57 belongs to a group of encephalopathies with early-onset and characterised by severe electroencephalogram abnormalities, seizures, developmental delay and intellectual disability. METHOD: We carried out Whole Exome analysis using Next Generation Sequencing (NGS) and bioinformatic analysis performed to find mutation associated with the patient phenotypes. The effect of the mutation on protein structure analysed by PolyPhen2 and Swissmodel ExPASy...
September 15, 2020: Acta Biochimica Polonica
Imane Abdelmoumen, Sandra Jimenez, Ignacio Valencia, Joseph Melvin, Agustin Legido, Mayela M Diaz-Diaz, Christopher Griffith, Lauren J Massingham, Melissa Yelton, Janice Rodríguez-Hernández, Rhonda E Schnur, Laurence E Walsh, Ana G Cristancho, Christina A Bergqvist, Kirsty McWalter, Iain Mathieson, Gillian M Belbin, Eimear E Kenny, Xilma R Ortiz-Gonzalez, Michael C Schneider
OBJECTIVE: To describe a founder mutation effect and the clinical phenotype of homozygous FRRS1L c.737_739delGAG (p.Gly246del) variant in 15 children of Puerto Rican (Boricua) ancestry presenting with early infantile epileptic encephalopathy (EIEE-37) with prominent movement disorder. BACKGROUND: EIEE-37 is caused by biallelic loss of function variants in the FRRS1L gene, which is critical for AMPA-receptor function, resulting in intractable epilepsy and dyskinesia...
September 15, 2020: Journal of Child Neurology
Laura Solé, Jacy L Wagnon, Michael M Tamkun
The voltage-gated sodium channel Nav 1.6 is associated with more than 300 cases of epileptic encephalopathy. Nav 1.6 epilepsy-causing mutations are spread over the entire channel's structure and only 10 % of mutations have been characterized at the molecular level, with most of them being gain of function mutations. In this study, we analyzed three previously uncharacterized Nav 1.6 epilepsy-causing mutations: G214D, N215D and V216D, located within a mutation hot-spot at the S3-S4 extracellular loop of Domain1...
September 8, 2020: Biochimica et Biophysica Acta. Molecular Basis of Disease
Akari Takai, Masamitsu Yamaguchi, Hideki Yoshida, Tomohiro Chiyonobu
Developmental and epileptic encephalopathies (DEEs) are the spectrum of severe epilepsies characterized by early-onset, refractory seizures occurring in the context of developmental regression or plateauing. Early infantile epileptic encephalopathy (EIEE) is one of the earliest forms of DEE, manifesting as frequent epileptic spasms and characteristic electroencephalogram findings in early infancy. In recent years, next-generation sequencing approaches have identified a number of monogenic determinants underlying DEE...
September 3, 2020: International Journal of Molecular Sciences
Giulia M Serratto, Erika Pizzi, Luca Murru, Sara Mazzoleni, Silvia Pelucchi, Elena Marcello, Michele Mazzanti, Maria Passafaro, Silvia Bassani
PCDH19 encodes for protocadherin-19 (PCDH19), a cell-adhesion molecule of the cadherin superfamily preferentially expressed in the brain. PCDH19 mutations cause a neurodevelopmental syndrome named epileptic encephalopathy, early infantile, 9 (EIEE9) characterized by seizures associated with cognitive and behavioral deficits. We recently reported that PCDH19 binds the alpha subunits of GABAA receptors (GABAA Rs), modulating their surface availability and miniature inhibitory postsynaptic currents (mIPSCs). Here, we investigated whether PCDH19 regulatory function on GABAA Rs extends to the extrasynaptic receptor pool that mediates tonic current...
September 3, 2020: Molecular Neurobiology
Adil Ahmed Khan, Chaithanya Reddy, Arushi Gahlot Saini, Sameer Vyas
No abstract text is available yet for this article.
August 24, 2020: BMJ Case Reports
Daisy Rymen, Martijn Lindhout, Maria Spanou, Farah Ashrafzadeh, Ira Benkel, Cornelia Betzler, Christine Coubes, Hans Hartmann, Julie D Kaplan, Diana Ballhausen, Johannes Koch, Jan Lotte, Mohammad Hasan Mohammadi, Marianne Rohrbach, Argirios Dinopoulos, Marieke Wermuth, Daniel Willis, Karin Brugger, Ron A Wevers, Eugen Boltshauser, Jörgen Bierau, Johannes A Mayr, Saskia B Wortmann
PURPOSE: Biallelic CAD variants underlie CAD deficiency (or early infantile epileptic encephalopathy-50, [EIEE-50]), an error of pyrimidine de novo biosynthesis amenable to treatment via the uridine salvage pathway. We further define the genotype and phenotype with a focus on treatment. METHODS: Retrospective case series of 20 patients. RESULTS: Our study confirms CAD deficiency as a progressive EIEE with recurrent status epilepticus, loss of skills, and dyserythropoietic anemia...
October 2020: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Reza Maroofian, Jiří Sedmík, Neda Mazaheri, Marcello Scala, Maha S Zaki, Liam P Keegan, Reza Azizimalamiri, Mahmoud Issa, Gholamreza Shariati, Alireza Sedaghat, Christian Beetz, Peter Bauer, Hamid Galehdari, Mary A O'Connell, Henry Houlden
BACKGROUND: Adenosine-to-inosine RNA editing is a co-transcriptional/post-transcriptional modification of double-stranded RNA, catalysed by one of two active adenosine deaminases acting on RNA (ADARs), ADAR1 and ADAR2. ADARB1 encodes the enzyme ADAR2 that is highly expressed in the brain and essential to modulate the function of glutamate and serotonin receptors. Impaired ADAR2 editing causes early onset progressive epilepsy and premature death in mice. In humans, ADAR2 dysfunction has been very recently linked to a neurodevelopmental disorder with microcephaly and epilepsy in four unrelated subjects...
July 27, 2020: Journal of Medical Genetics
Caroline Neuray, Reza Maroofian, Marcello Scala, Tipu Sultan, Gurpur S Pai, Majid Mojarrad, Heba El Khashab, Leigh deHoll, Wyatt Yue, Hessa S Alsaif, Maria N Zanetti, Oscar Bello, Richard Person, Atieh Eslahi, Zaynab Khazaei, Masoumeh H Feizabadi, Stephanie Efthymiou, Hala T El-Bassyouni, Doaa R Soliman, Selahattin Tekes, Leyla Ozer, Volkan Baltaci, Suliman Khan, Christian Beetz, Khalda S Amr, Vincenzo Salpietro, Yalda Jamshidi, Fowzan S Alkuraya, Henry Houlden
Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA in the CNS, and is encoded by the GAD1 gene. Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters, and as Gad1-/- mice die neonatally of severe cleft palate, it has not been possible to determine any potential neurological dysfunction...
August 1, 2020: Brain: a Journal of Neurology
Maysa Saleh, Mostafa Helmi, Bushra Yacop
Early infantile epileptic encephalopathy (EIEE) is a severe form neurological disorder of age-related epileptic encephalopathy. Characteristically, it presents with tonic spasms within the first 3 months of life. The spasms can be generalized or focal and hemi-convulsions, it can be in clusters or singly which occur hundreds of times per day, not related to sleep cycle, leading to psychomotor impairment and death. Some cases of EIEE are due to metabolic disorders or brain malformations that may or not be genetic in origin...
January 2020: Pakistan Journal of Biological Sciences: PJBS
Konark Mukherjee, Paras A Patel, Deepa S Rajan, Leslie E W LaConte, Sarika Srivastava
BACKGROUND: CASK is an X-linked gene in mammals and its deletion in males is incompatible with life. CASK heterozygous mutations in female patients associate with intellectual disability, microcephaly, pontocerebellar hypoplasia, and optic nerve hypoplasia, whereas CASK hemizygous mutations in males manifest as early infantile epileptic encephalopathy with a grim prognosis. Here, we report a rare case of survival of a male patient harboring a CASK null mutation to adolescent age. METHODS: Trio whole exome sequencing analysis was performed from blood genomic DNA...
July 21, 2020: Molecular Genetics & Genomic Medicine
Yuji Masataka, Ichiro Takumi, Edward Maa, Hitoshi Yamamoto
We observed that cannabidiol supplements were highly effective in treating an infant boy with drug-resistant early infantile epileptic encephalopathy, eliminating his intractable tonic seizures. The infant began suffering clusters of brief tonic seizures from birth at 39 weeks gestation. EEG showed burst-suppression and seizures could not be controlled by trials of phenobarbital, zonisamide, vitamin B6, clobazam, levetiracetam, topiramate, phenytoin, valproate, high-dose phenobarbital, and ACTH therapy. The boy was discharged from hospital at 130 days of age still averaging tonic seizures 20-30 times per day...
2020: Epilepsy & behavior reports
Bobby G Ng, Erik A Eklund, Sergey A Shiryaev, Yin Y Dong, Mary-Alice Abbott, Carla Asteggiano, Michael J Bamshad, Eileen Barr, Jonathan A Bernstein, Shabeed Chelakkadan, John Christodoulou, Wendy K Chung, Michael A Ciliberto, Janice Cousin, Fiona Gardiner, Suman Ghosh, William D Graf, Stephanie Grunewald, Katherine Hammond, Natalie S Hauser, George E Hoganson, Kimberly M Houck, Jennefer N Kohler, Eva Morava, Austin A Larson, Pengfei Liu, Sujana Madathil, Colleen McCormack, Naomi J L Meeks, Rebecca Miller, Kristin G Monaghan, Deborah A Nickerson, Timothy Blake Palculict, Gabriela Magali Papazoglu, Beth A Pletcher, Ingrid E Scheffer, Andrea Beatriz Schenone, Rhonda E Schnur, Yue Si, Leah J Rowe, Alvaro H Serrano Russi, Rossana Sanchez Russo, Farouq Thabet, Allysa Tuite, María Mercedes Villanueva, Raymond Y Wang, Richard I Webster, Dorcas Wilson, Alice Zalan, Lynne A Wolfe, Jill A Rosenfeld, Lindsay Rhodes, Hudson H Freeze
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked glycosylation. De novo variants in ALG13 underlie a form of early infantile epileptic encephalopathy known as EIEE36, but given its essential role in glycosylation, it is also considered a congenital disorder of glycosylation (CDG), ALG13-CDG. Twenty-four previously reported ALG13-CDG cases had de novo variants, but surprisingly, unlike most forms of CDG, ALG13-CDG did not show the anticipated glycosylation defects, typically detected by altered transferrin glycosylation...
July 18, 2020: Journal of Inherited Metabolic Disease
Leilei Mao, Miriam Kessi, Pan Peng, Fang He, Ciliu Zhang, Lifen Yang, Liwen Wu, Fei Yin, Jing Peng
Infantile spasms (ISs) is a devastating form of an early infantile epileptic encephalopathy. The patterns of response of multiple regimens, and the difference in response rates for the cases who receive first-line therapies on time versus those who receive them after non-first-line therapies are unknown. We performed a study involving 314 ISs cases aiming to investigate the patterns of response of 11 regimens, and the difference in response rates for the cases received first-line therapies as first two regimens versus those who received other drugs prior to first-line options...
July 13, 2020: Scientific Reports
Mahesh Kamate, Supriya Patil
No abstract text is available yet for this article.
September 2020: Pediatric Neurology
Elinor Lazarov, Merle Hillebrand, Simone Schröder, Katharina Ternka, Julia Hofhuis, Andreas Ohlenbusch, Alonso Barrantes-Freer, Luis A Pardo, Marlene U Fruergaard, Poul Nissen, Knut Brockmann, Jutta Gärtner, Hendrik Rosewich
Heterozygous mutations in the ATP1A3 gene, coding for an alpha subunit isoform (α3) of Na+ /K+ -ATPase, are the primary genetic cause for rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC). Recently, cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS), early infantile epileptic encephalopathy (EIEE), childhood rapid onset ataxia (CROA) and relapsing encephalopathy with rapid onset ataxia (RECA) extend the clinical spectrum of ATP1A3 related disorders...
July 10, 2020: Neurobiology of Disease
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